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Guidelines for reporting clinical features in cases with MECP2 mutations
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UNSPECIFIED (2001) Guidelines for reporting clinical features in cases with MECP2 mutations. BRAIN & DEVELOPMENT, 23 (4). pp. 208-211. ISSN 0387-7604.
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Abstract
An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome, A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations. (C) 2001 Elsevier Science B.V. All rights reserved.
Item Type: | Journal Article | ||||
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Subjects: | R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry | ||||
Journal or Publication Title: | BRAIN & DEVELOPMENT | ||||
Publisher: | ELSEVIER SCIENCE BV | ||||
ISSN: | 0387-7604 | ||||
Official Date: | July 2001 | ||||
Dates: |
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Volume: | 23 | ||||
Number: | 4 | ||||
Number of Pages: | 4 | ||||
Page Range: | pp. 208-211 | ||||
Publication Status: | Published |
Data sourced from Thomson Reuters' Web of Knowledge
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